Canonical Allele Identifier: CA2466677793

Gene: TAFAZZIN

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154420707_154420717delinsAGCGGCTCCGG , CM000685.2:g.154420707_154420717delinsAGCGGCTCCGG	GRCh38
NC_000023.10:g.153649046_153649056delinsAGCGGCTCCGG , CM000685.1:g.153649046_153649056delinsAGCGGCTCCGG	GRCh37
NC_000023.9:g.153302240_153302250delinsAGCGGCTCCGG	NCBI36
NG_009634.1:g.14170_14180delinsAGCGGCTCCGG
NG_009634.2:g.14173_14183delinsAGCGGCTCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698234.1:n.1559_1569delinsAGCGGCTCCGG
ENST00000698317.1:n.2175_2185delinsAGCGGCTCCGG
ENST00000698318.1:n.1958_1968delinsAGCGGCTCCGG
ENST00000698319.1:n.1321_1331delinsAGCGGCTCCGG
ENST00000698320.1:n.1209_1219delinsAGCGGCTCCGG
ENST00000470127.2:n.1222_1232delinsAGCGGCTCCGG
ENST00000475699.6:c.713_723delinsAGCGGCTCCGG	ENSP00000419854.3:p.Glu238=
ENST00000483674.3:n.631_641delinsAGCGGCTCCGG
ENST00000601016.6:c.749_759delinsAGCGGCTCCGG MANE Select	ENSP00000469981.1:p.Glu250=
ENST00000612012.5:c.707_717delinsAGCGGCTCCGG	ENSP00000482070.2:p.Glu236=
ENST00000612460.5:c.659_669delinsAGCGGCTCCGG	ENSP00000481037.1:p.Glu220=
ENST00000614595.2:n.2096_2106delinsAGCGGCTCCGG
ENST00000615658.5:n.1338_1348delinsAGCGGCTCCGG
ENST00000616020.5:c.761_771delinsAGCGGCTCCGG	ENSP00000483636.2:p.Glu254=
ENST00000617701.5:c.*762_*772delinsAGCGGCTCCGG	ENSP00000481645.1:n.*762_*772delinsAGCGGCTCCGG
ENST00000651139.1:c.-35_-25delinsAGCGGCTCCGG	ENSP00000498957.1:n.-35_-25delinsAGCGGCTCCGG
ENST00000652354.1:c.431_441delinsAGCGGCTCCGG	ENSP00000498734.1:p.Glu144=
ENST00000652358.1:c.542_552delinsAGCGGCTCCGG	ENSP00000498464.1:p.Glu181=
ENST00000652390.1:c.668_678delinsAGCGGCTCCGG	ENSP00000498858.1:p.Glu223=
ENST00000652476.1:n.1415_1425delinsAGCGGCTCCGG
ENST00000652644.1:c.362_372delinsAGCGGCTCCGG	ENSP00000498496.1:p.Glu121=
ENST00000652682.1:c.806_816delinsAGCGGCTCCGG	ENSP00000498288.1:p.Glu269=
ENST00000652685.1:n.1102_1112delinsAGCGGCTCCGG
ENST00000369776.8:c.659_669delinsAGCGGCTCCGG	ENSP00000358791.4:p.Glu220=
ENST00000426231.5:c.746_756delinsAGCGGCTCCGG
ENST00000475699.5:c.707_717delinsAGCGGCTCCGG	ENSP00000419854.2:p.Glu236=
ENST00000494912.5:n.1438_1448delinsAGCGGCTCCGG
ENST00000498029.1:n.207_217delinsAGCGGCTCCGG
ENST00000601016.5:c.749_759delinsAGCGGCTCCGG	ENSP00000469981.1:p.Glu250=
ENST00000612460.4:c.659_669delinsAGCGGCTCCGG	ENSP00000481037.1:p.Glu220=
ENST00000613002.4:c.617_627delinsAGCGGCTCCGG	ENSP00000478154.1:p.Glu206=
ENST00000615986.4:c.*477_*487delinsAGCGGCTCCGG	ENSP00000480133.1:n.*477_*487delinsAGCGGCTCCGG
NM_000116.4:c.749_759delinsAGCGGCTCCGG	NP_000107.1:p.Glu250=
NM_001303465.1:c.761_771delinsAGCGGCTCCGG	NP_001290394.1:p.Glu254=
NM_181311.3:c.659_669delinsAGCGGCTCCGG	NP_851828.1:p.Glu220=
NM_181312.3:c.707_717delinsAGCGGCTCCGG	NP_851829.1:p.Glu236=
NM_181313.3:c.617_627delinsAGCGGCTCCGG	NP_851830.1:p.Glu206=
NR_024048.2:n.1091_1101delinsAGCGGCTCCGG
XM_006724836.1:c.803_813delinsAGCGGCTCCGG	XP_006724899.1:p.Glu268=
XM_006724837.1:c.788_798delinsAGCGGCTCCGG	XP_006724900.1:p.Glu263=
XM_006724839.1:c.671_681delinsAGCGGCTCCGG	XP_006724902.1:p.Glu224=
XM_006724841.2:c.542_552delinsAGCGGCTCCGG	XP_006724904.1:p.Glu181=
XM_006724842.2:c.452_462delinsAGCGGCTCCGG	XP_006724905.1:p.Glu151=
XM_011531189.1:c.590_600delinsAGCGGCTCCGG	XP_011529491.1:p.Glu197=
XM_011531190.1:c.542_552delinsAGCGGCTCCGG	XP_011529492.1:p.Glu181=
XM_011531191.1:c.473_483delinsAGCGGCTCCGG	XP_011529493.1:p.Glu158=
XM_011531192.1:c.470_480delinsAGCGGCTCCGG	XP_011529494.1:p.Glu157=
XR_938511.1:n.1097_1107delinsAGCGGCTCCGG
XM_006724841.4:c.542_552delinsAGCGGCTCCGG	XP_006724904.1:p.Glu181=
XM_006724842.4:c.452_462delinsAGCGGCTCCGG	XP_006724905.1:p.Glu151=
XM_011531191.2:c.473_483delinsAGCGGCTCCGG	XP_011529493.1:p.Glu158=
XM_017029761.1:c.734_744delinsAGCGGCTCCGG	XP_016885250.1:p.Glu245=
XM_017029762.1:c.713_723delinsAGCGGCTCCGG	XP_016885251.1:p.Glu238=
XM_017029763.1:c.536_546delinsAGCGGCTCCGG	XP_016885252.1:p.Glu179=
XM_017029764.1:c.470_480delinsAGCGGCTCCGG	XP_016885253.1:p.Glu157=
XM_017029765.2:c.410_420delinsAGCGGCTCCGG	XP_016885254.1:p.Glu137=
XM_024452431.1:c.707_717delinsAGCGGCTCCGG	XP_024308199.1:p.Glu236=
NM_000116.5:c.749_759delinsAGCGGCTCCGG MANE Select	NP_000107.1:p.Glu250=
NM_001303465.2:c.761_771delinsAGCGGCTCCGG	NP_001290394.1:p.Glu254=
NM_181311.4:c.659_669delinsAGCGGCTCCGG	NP_851828.1:p.Glu220=
NM_181312.4:c.707_717delinsAGCGGCTCCGG	NP_851829.1:p.Glu236=
NM_181313.4:c.617_627delinsAGCGGCTCCGG	NP_851830.1:p.Glu206=
NR_024048.3:n.1070_1080delinsAGCGGCTCCGG